Marisa Wexler, MS, senior science writer —

Perceptions about illness often don’t line up between children with spinal muscular atrophy (SMA) and their parents, with mothers and fathers often perceiving disease severity as worse than their children do, according to a recent study. Importantly, children’s perceptions of their disease are closely associated with their quality of…

A readiness program to help clinical trial sites prepare to run spinal muscular atrophy (SMA) studies has been established by Cure SMA in collaboration with the pharmaceutical industry, other patient advocacy groups, and research institutes. The program is described in a position statement, “The SMA Clinical…

Siblings of people with spinal muscular atrophy (SMA) who do not have the disease themselves tend to learn about it gradually over time from both their parents and external sources, a study shows. Findings from interviews with families affected by SMA highlight the importance of parents discussing the risk…

A better understanding of the needs of adults with spinal muscular atrophy (SMA), best ensuring for their mental and social — as well as physical — well-being, is necessary to guide future research, care recommendations, and policy decisions, a review study states. Among its findings was strong support for treatments that…

A family’s journey through the diagnosis and treatment of their baby girl, born with spinal muscular atrophy type 1 (SMA1), was the focus of a paper written by her mother and the doctors, highlighting the importance of cooperation between parents and clinicians in caring for children with SMA. Ultimately,…

Among people with spinal muscular atrophy (SMA) and other neuromuscular disorders, participation in adapted sports is associated with greater self-esteem, lesser depression, and a better quality of life, a study shows. The study, “Psychosocial impact of sport activity in neuromuscular disorders,” was published in Neurological Sciences.

Problems with the secretion of survival signals from muscle cells seems to be the dominant driver of motor neuron loss in spinal muscular atrophy lower extremity predominant 2 (SMA-LED2), an SMA subtype largely affecting the legs, a study suggests. The study, “Loss of BICD2 in muscle…

The Muscular Dystrophy Association (MDA) is hosting an online Q&A session today to discuss the best ways that people with neuromuscular diseases might protect themselves during the COVID-19 pandemic. The 30-minute session can be accessed on the MDA’s Facebook page, and starts at 6 p.m. EST. People with…

As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy for individuals with four copies of the SMN2 gene, a new study contends. The study, “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn…

Palliative care for babies with spinal muscular atrophy (SMA) type 1 has improved in recent decades, with greater involvement of dedicated pediatric medical teams, a new French study suggests. As more treatments become available, ethical questions about the appropriate level of care will need to be addressed, researchers…